Hereditary spastic paraparesis: a review of new developments

McDermott, Christopher J.; White, K D; Bushby, K.; Shaw, Pamela J.

doi:10.1136/jnnp.69.2.150

Cited by 221 publications

(207 citation statements)

References 109 publications

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“…6,7 HSP should be considered a diagnosis of exclusion in children. 5 Important diagnostic alerts against it are bulbar signs, early amyotrophy, asymmetric pyramidal tract lesions, extra pyramidal signs and peripheral neuropathy. 5 The presence of more than one affected child in a family or affected cousins was very helpful in making the HSP diagnosis.…”

Section: Discussionmentioning

confidence: 99%

“…All children were examined independently by two child neurologists and their HSP was classified as pure or complicated based on the established diagnostic criteria. 4,5 In families with more than one affected child, the parents and all other siblings were examined for abnormal neurological signs. Affected cousins could not be examined as they refused to come for a check-up.…”

Section: Methodsmentioning

confidence: 99%

“…3 HSP is classified as either pure or complicated based on well-established criteria. 4,5 The disease is mainly reported in adults and there have been only a few studies in children. 5,6 Autosomal dominant, X-linked and autosomal recessive modes of inheritance have been described.…”

Section: H Ereditary Spastic Paraplegia (Hsp)mentioning

confidence: 99%

“…4,5 The disease is mainly reported in adults and there have been only a few studies in children. 5,6 Autosomal dominant, X-linked and autosomal recessive modes of inheritance have been described. 7 The autosomal dominant variety is the most common type, reported in 70-80% of all cases of HSP seen so far.…”

Section: H Ereditary Spastic Paraplegia (Hsp)mentioning

confidence: 99%

“…7 The autosomal dominant variety is the most common type, reported in 70-80% of all cases of HSP seen so far. 5,8 Previous data from Oman were limited to two reports of two large families involving 16 children with novel genetic mutations. 9,10 The present study describes clinical features of HSP in 74 children, including the previous study of 16 children in which a genetic work-up has already been done.…”

Section: H Ereditary Spastic Paraplegia (Hsp)mentioning

confidence: 99%

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Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة

Koul¹,

Al-Murshedi²,

Al-Azri³

et al. 2013

SQUMJ

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abstract:Objectives: The aim of the study was to explore the spectrum of hereditary spastic paraplegia (HSP) in children in Oman. Methods: This retrospective study was carried out between January 1994 and August 2011 on children with delayed development, gait disorders and motor handicaps, with signs of symmetrical pyramidal tract involvement. A detailed perinatal and family history, including the age of onset of symptoms, was recorded. The children were labelled as having either the pure or complicated form of HSP based on the established diagnostic criteria. In families with more than one affected child, parents and all other siblings were also examined. Results: Within the study, 74 children from 31 families were diagnosed with HSP. Parental consanguinity was seen in 91% of cases, with 44 children (59.4%) experiencing onset of the disease under one year of age. Complicated HSP was the most common type, seen in 81.1%. Speech involvement, mental retardation, and epilepsy were the most common associated abnormalities. Nonspecific white matter changes and corpus callosum abnormalities were noted in 24.3% of cases on magnetic resonance imaging. Conclusion: The study described clinical features of 74 children with HSP. Autosomal recessive complicated HSP was seen in 81.1% of cases. Keywords

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: H Ereditary Spastic Paraplegia (Hsp)mentioning

confidence: 99%

Section: H Ereditary Spastic Paraplegia (Hsp)mentioning

confidence: 99%

Section: H Ereditary Spastic Paraplegia (Hsp)mentioning

confidence: 99%

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Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة

Koul¹,

Al-Murshedi²,

Al-Azri³

et al. 2013

SQUMJ

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Spectrum of SPG4 Mutations in a Large Collection of North American Families With Hereditary Spastic Paraplegia

Meijer¹,

Hand²,

Cossette³

et al. 2002

Arch Neurol

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Our collection of families with HSP is different on a genetic level from those previously described. The percentage of our families with a SPG4 mutation is 10% lower than the 40% estimate of families with autosomal dominant HSP noted to be linked to this locus, and splice mutations are not predominant in our collection. Interestingly, we also identified 2 recurring mutations in specific populations (R562Q and G559D), which may facilitate the development of future spastin diagnostic testing in these populations.

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Mutation Analysis of SPG4 and SPG3A Genes and Its Implication in Molecular Diagnosis of Korean Patients With Hereditary Spastic Paraplegia

Park¹,

Ki²,

Kim³

et al. 2005

Arch Neurol

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Background: Hereditary spastic paraplegia (HSP), a genetically and clinically heterogeneous group of neurodegenerative disorders, is characterized by progressive lower limb weakness and spasticity. Among the 8 loci associated with the autosomal dominant uncomplicated HSP (AD-HSP), the spastin (SPG4) and atlastin (SPG3A) genes have been known to account for approximately 40% and 10% of all cases, respectively.Objective: To investigate the contribution of these 2 genes in the occurrence of HSP in Korean patients.Design: Clinical and genetic study.Setting: Tertiary care center.Patients: Eighteen patients with uncomplicated HSP (11 AD and 7 sporadic) underwent screening for gene mutation.Main Outcome Measures: Mutations in the SPG4 and SPG3A genes as detected by direct sequencing of all coding exons and flanking intronic sequences.Results: We identified 8 different SPG4 mutations, 7 of which have not been reported elsewhere. Among the detected mutations were 3 missense mutations, 2 in-frame deletions, 2 frameshift mutations, and 1 splice-site mutation. No mutation was found in the SPG3A gene. Conclusion:Compared with previous studies, a higher frequency of SPG4 gene mutations in AD-HSP (7/11; 64%) was observed, suggesting that a mutation analysis for the SPG4 gene might be helpful for molecular diagnosis of AD-HSP in Korean patients.

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Hereditary spastic paraparesis: a review of new developments

Cited by 221 publications

References 109 publications

Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة

Clinical Spectrum of Hereditary Spastic Paraplegia in Children : A Study of 74 Cases = الطيف السريري للشلل السفلي التشنجي الوراثي في الأطفال : دراسة 74 حالة

Spectrum of SPG4 Mutations in a Large Collection of North American Families With Hereditary Spastic Paraplegia

Mutation Analysis of SPG4 and SPG3A Genes and Its Implication in Molecular Diagnosis of Korean Patients With Hereditary Spastic Paraplegia

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